Page 20 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 1
of the ears and hearing impairment were collected and this was correlated to the genotypes. The aim of the study was to show the role of hearing impairment in Noonan syndrome. We hypothesized that hearing impairment is an important characteristic in Noonan syndrome although it has never been described extensively in literature. In Chapter 6 we described four Noonan syndrome patients and one patient with Noonan syndrome with multiple lentigines, who were all diagnosed with severe to profound hearing loss. We studied the results of cochlear implantation in this case series. Hearing impairment influences the development of children. These hearing impairment studies will answer the questions about advise for audiological examination in Noonan syndrome patients and treatment options for those patients with severe hearing loss.
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